Literature DB >> 30713946

Will New Genetic Techniques Like Exome Sequencing and Others Obviate the Need for Clinical Expertise? Yes.

Vincenzo Bonifati1.   

Abstract

Year:  2016        PMID： 30713946      PMCID： PMC6353456          DOI： 10.1002/mdc3.12438

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  25 in total

Review 1.  Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

Authors:  B Balint; K P Bhatia
Journal:  Eur J Neurol       Date:  2015-01-29       Impact factor: 6.089

2.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

3.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Authors:  Sarah E Soden; Carol J Saunders; Laurel K Willig; Emily G Farrow; Laurie D Smith; Josh E Petrikin; Jean-Baptiste LePichon; Neil A Miller; Isabelle Thiffault; Darrell L Dinwiddie; Greyson Twist; Aaron Noll; Bryce A Heese; Lee Zellmer; Andrea M Atherton; Ahmed T Abdelmoity; Nicole Safina; Sarah S Nyp; Britton Zuccarelli; Ingrid A Larson; Ann Modrcin; Suzanne Herd; Mitchell Creed; Zhaohui Ye; Xuan Yuan; Robert A Brodsky; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2014-12-03       Impact factor: 17.956

4.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

5.  Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Authors:  Hane Lee; Joshua L Deignan; Naghmeh Dorrani; Samuel P Strom; Sibel Kantarci; Fabiola Quintero-Rivera; Kingshuk Das; Traci Toy; Bret Harry; Michael Yourshaw; Michelle Fox; Brent L Fogel; Julian A Martinez-Agosto; Derek A Wong; Vivian Y Chang; Perry B Shieh; Christina G S Palmer; Katrina M Dipple; Wayne W Grody; Eric Vilain; Stanley F Nelson
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

Review 6.  Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.

Authors:  Brent L Fogel; Hane Lee; Samuel P Strom; Joshua L Deignan; Stanley F Nelson
Journal:  Ann N Y Acad Sci       Date:  2015-08-06       Impact factor: 5.691

Review 7.  Genetics of Parkinson's disease--state of the art, 2013.

Authors:  Vincenzo Bonifati
Journal:  Parkinsonism Relat Disord       Date:  2014-01       Impact factor: 4.891

8.  ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

Authors: 
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822

9.  Clinical exome sequencing in daily practice: 1,000 patients and beyond.

Authors:  Wendy A van Zelst-Stams; Hans Scheffer; Joris A Veltman
Journal:  Genome Med       Date:  2014-01-24       Impact factor: 11.117

10.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822
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  1 in total

1.  Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Authors:  Patricio Millar Vernetti; María Agustina Ruiz Yanzi; Malco Rossi; Marcelo Merello
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2022-04-20
  1 in total

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